Miyoshi myopathy

Common Name(s)

Miyoshi myopathy

Miyoshi myopathy is a type of muscular dystrophy characterized by muscle weakness and atrophy (wasting), mainly in the distal parts of the legs.  The first symptoms typically begin in young adulthood (on average 20 years of age) and include weakness and atrophy of the calves (sometimes asymmetrically), leading to inability to jump, run or walk on tiptoes. Over a period of years, the weakness and atrophy typically spread to the thighs and gluteal muscles. The forearms may become mildly atrophic with decrease in grip strength. It is caused by mutations in the DYSF gene and is inherited in an autosomal recessive manner. Management may include physical therapy, use of mechanical aids, surgical intervention for orthopedic complications, respiratory aids, and social and emotional support.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Miyoshi myopathy" for support, advocacy or research.

Jain Foundation

Our mission is to cure muscular dystrophies caused by dysferlin protein deficiency called dysferlinopathies, limb-girdle muscular dystrophy type 2B (LGMD2B) and Miyoshi muscular dystrophy 1 (MMD1). Our strategy includes funding and actively monitoring the progress of scientific research projects in key pathways towards a cure, providing financial and logistical support to promising drug candidates to accelerate them to clinical trials, funding clinical trials and studies, encouraging collaboration among scientists, and educating LGMD2B/Miyoshi patients and helping them with their diagnosis.

Last Updated: 22 May 2015

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General Support Organizations

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How do you compare to others with this condition?

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Miyoshi myopathy" for support, advocacy or research.

Jain Foundation

Our mission is to cure muscular dystrophies caused by dysferlin protein deficiency called dysferlinopathies, limb-girdle muscular dystrophy type 2B (LGMD2B) and Miyoshi muscular dystrophy 1 (MMD1). Our strategy includes funding and actively monitoring the progress of scientific research projects in key pathways towards a cure, providing financial and logistical support to promising drug candidates to accelerate them to clinical trials, funding clinical trials and studies, encouraging collaboration among scientists, and educating LGMD2B/Miyoshi patients and helping them with their diagnosis.

http://www.jain-foundation.org

Last Updated: 22 May 2015

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General Support Organizations

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General Resources

ALDA - Automated LGMD Diagnostic Assistant

Online tool that helps physicians diagnose their patients. US patients may be eligible for free diagnostic sequencing.

Uploaded By: Jain Foundation

Updated 22 May 2015

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Miyoshi myopathy" returned 8 free, full-text research articles on human participants. First 3 results:

Efficient and reproducible myogenic differentiation from human iPS cells: prospects for modeling Miyoshi Myopathy in vitro.
 

Author(s): Akihito Tanaka, Knut Woltjen, Katsuya Miyake, Akitsu Hotta, Makoto Ikeya, Takuya Yamamoto, Tokiko Nishino, Emi Shoji, Atsuko Sehara-Fujisawa, Yasuko Manabe, Nobuharu Fujii, Kazunori Hanaoka, Takumi Era, Satoshi Yamashita, Ken-Ichi Isobe, En Kimura, Hidetoshi Sakurai

Journal:

 

The establishment of human induced pluripotent stem cells (hiPSCs) has enabled the production of in vitro, patient-specific cell models of human disease. In vitro recreation of disease pathology from patient-derived hiPSCs depends on efficient differentiation protocols producing relevant ...

Last Updated: 29 Apr 2013

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Early detection of cardiac involvement in Miyoshi myopathy: 2D strain echocardiography and late gadolinium enhancement cardiovascular magnetic resonance.
 

Author(s): E Ryoung Choi, Sung-Ji Park, Yeon Hyeon Choe, Dong Ryeol Ryu, Sung-A Chang, Jin-Oh Choi, Sang-Chol Lee, Seung Woo Park, Byoung Joon Kim, Duk-Kyung Kim, Jae K Oh

Journal:

 

Miyoshi myopathy (MM) is an autosomal recessive distal myopathy characterized by early adult onset. Cardiomyopathy is a major clinical manifestation in other muscular dystrophies and an important prognostic factor. Although dysferlin is highly expressed in cardiac muscle, the effect ...

Last Updated: 18 Jun 2010

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Patients with a non-dysferlin Miyoshi myopathy have a novel membrane repair defect.
 

Author(s): Jyoti K Jaiswal, Gareth Marlow, Gillian Summerill, Ibrahim Mahjneh, Sebastian Mueller, Maria Hill, Katsuya Miyake, Hannelore Haase, Louise V B Anderson, Isabelle Richard, Sari Kiuru-Enari, Paul L McNeil, Sanford M Simon, Rumaisa Bashir

Journal: Traffic. 2007 Jan;8(1):77-88.

 

Two autosomal recessive muscle diseases, limb girdle muscular dystrophy type 2B (LGMD2B) and Miyoshi myopathy (MM), are caused by mutations in the dysferlin gene. These mutations result in poor ability to repair cell membrane damage, which is suggested to be the cause for this disease. ...

Last Updated: 18 Jan 2007

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Miyoshi myopathy" returned 0 free, full-text review articles on human participants.

 
 
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Symptoms, Diagnosis, and Treatment

There are currently no related results available in Genetics Home Reference.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

Genetic Study of Familial and Sporadic ALS/Motor Neuron Disease, Miyoshi Myopathy and Other Neuromuscular Disorders
 

Status: Recruiting

Condition Summary: Amyotrophic Lateral Sclerosis; Frontotemporal Dementia; PLS; Motor Neuron Disease; Lou Gehrigs Disease; Familial Disease; Amyotrophic Lateral Sclerosis, Sporadic; Muscular Dystrophy; Miyoshi Myopathy

 

Last Updated: 25 Aug 2016

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rAAVrh74.MHCK7.DYSF.DV for Treatment of Dysferlinopathies
 

Status: Recruiting

Condition Summary: Dysferlinopathy

 

Last Updated: 21 Nov 2016

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